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ARVO Annual Meeting Abstract June 2017

Mutation survey of candidate genes in 22 Chinese patients with Axenfeld-Rieger syndrome

Xun Wang; Xing Liu; Xiaoyun Jia; Xueshan Xiao; Shiqiang Li; Xiangming Guo

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):572.

ARVO Annual Meeting Abstract June 2017

Reinspection of FEVR based on exome sequencing: a common disease with extremely variable phenotypes

Qingjiong Zhang; Xueshan Xiao; Shiqiang Li; Xiaoyun Jia; Xiangming Guo

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1237.

ARVO Annual Meeting Abstract September 2016

New locus for autosomal dominant aniridia in a Chinese family

Panfeng Wang; Xueshan Xiao; Shiqiang Li; Xiaoyun Jia; Xiangming Guo; Qingjiong Zhang

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):674.

ARVO Annual Meeting Abstract September 2016

Frequent mutations of genes involved in OXPHOS and optic neuropathy detected by whole exome sequencing of 257 Glaucoma Patients

Xiaobo Huang; Xueshan Xiao; Xiaoyun Jia; Shiqiang Li; Panfeng Wang; Yimin Zhong; Xiangming Guo; Xing Liu; Qingjiong Zhang

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):820.

ARVO Annual Meeting Abstract September 2016

Mutations in MT-ND4, MT-ND6 and MT-ND1 genes of 3013 Chinese patients suspected with Leber hereditary optic neuropathy: A 20-year retrospective

Xiaoyun Jia; Shiqiang Li; Xueshan Xiao; Xiangming Guo; Qingjiong Zhang

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):6582.

Biochemistry and Molecular Biology December 2015

Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes

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Wenmin Sun; Li Huang; Yan Xu; Xueshan Xiao; Shiqiang Li; Xiaoyun Jia; Bei Gao; Panfeng Wang; Xiangming Guo; Qingjiong Zhang
TAGS: genes, mutation, myopia, proband, whole exome sequencing
Invest. Ophthalmol. Vis. Sci.. 2015; 56(13):8365-8372. https://doi.org/10.1167/iovs.15-17555

Includes: Supplemental Content

Biochemistry and Molecular Biology June 2015

Unique Variants in OPN1LW Cause Both Syndromic and Nonsyndromic X-Linked High Myopia Mapped to MYP1

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Jiali Li; Bei Gao; Liping Guan; Xueshan Xiao; Jianguo Zhang; Shiqiang Li; Hui Jiang; Xiaoyun Jia; Jianhua Yang; Xiangming Guo; Ye Yin; Jun Wang; Qingjiong Zhang
TAGS: myopia, x-linked inheritance, family, haplotypes
Invest. Ophthalmol. Vis. Sci.. 2015; 56(6):4150-4155. https://doi.org/10.1167/iovs.14-16356

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2015

ALMS1 truncation mutations identified by exome sequencing in 11 Chinese families with early-onset severe retinal degeneration

Yan Xu; Liping Guan; Xueshan Xiao; Jianguo Zhang; Shiqiang Li; Hui Jiang; Xiaoyun Jia; Ye Yin; Xiangming Guo; Qingjiong Zhang

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):170.

ARVO Annual Meeting Abstract June 2015

Mutation analysis of genes associated with inherited retinal dystrophies in 257 patients with glaucoma

Xiaobo Huang; Xueshan Xiao; Xiaoyun Jia; Shiqiang Li; Miaoling Li; Xiangming Guo; Xing Liu; Qingjiong Zhang

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1982.

ARVO Annual Meeting Abstract June 2015

Confirmation of variants in OPN1LW as a common cause of MYP1 based on study of Chinese families with nonsyndromic high myopia

Jiali Li; Xueshan Xiao; Shiqiang Li; Xiaoyun Jia; Wenmin Sun; Xiangming Guo; Qingjiong Zhang

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2532.

Biochemistry and Molecular Biology February 2015

Evaluation of 12 Myopia-Associated Genes in Chinese Patients With High Myopia

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Jiali Li; Dan Jiang; Xueshan Xiao; Shiqiang Li; Xiaoyun Jia; Wenmin Sun; Xiangming Guo; Qingjiong Zhang
TAGS: chinese (other dialects), genes, myopia, chinese people, dideoxy chain termination dna sequencing, whole exome sequencing
Invest. Ophthalmol. Vis. Sci.. 2015; 56(2):722-729. https://doi.org/10.1167/iovs.14-14880

Includes: Supplemental Content

Genetics January 2015

Detection of Mutations in LRPAP1 , CTSH , LEPREL1 , ZNF644 , SLC39A5 , and SCO2 in 298 Families With Early-Onset High Myopia by Exome Sequencing

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Dan Jiang; Jiali Li; Xueshan Xiao; Shiqiang Li; Xiaoyun Jia; Wenmin Sun; Xiangming Guo; Qingjiong Zhang
TAGS: family, mutation, myopia, heterozygote
Invest. Ophthalmol. Vis. Sci.. 2015; 56(1):339-345. https://doi.org/10.1167/iovs.14-14850

Includes: Supplemental Content

Genetics June 2014

Mutation Analysis of Seven Known Glaucoma-Associated Genes in Chinese Patients With Glaucoma

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Xiaobo Huang; Miaoling Li; Xiangming Guo; Shiqiang Li; Xueshan Xiao; Xiaoyun Jia; Xing Liu; Qingjiong Zhang
TAGS: chinese (other dialects), chinese people, genes, glaucoma, mutation, mutation analysis, open-angle glaucoma, whole exome sequencing, myoc gene, dideoxy chain termination dna sequencing
Invest. Ophthalmol. Vis. Sci.. 2014; 55(6):3594-3602. https://doi.org/10.1167/iovs.14-13927

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2014

Exome sequencing of 257 patients with POAG or PACG: mutations in seven known glaucoma-associated genes

Qingjiong Zhang; Xiaobo Huang; Miaoling Li; Xiangming Guo; Shiqiang Li; Xueshan Xiao; Xiaoyun Jia; Xing Liu; Qingjiong Zhang

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3791.

Genetics June 2013

Comprehensive Mutation Analysis by Whole-Exome Sequencing in 41 Chinese Families With Leber Congenital Amaurosis

PDF

Yabin Chen; Qingyan Zhang; Tao Shen; Xueshan Xiao; Shiqiang Li; Liping Guan; Jianguo Zhang; Zhihong Zhu; Ye Yin; Panfeng Wang; Xiangming Guo; Jun Wang; Qingjiong Zhang
TAGS: chinese (other dialects), chinese people, dideoxy chain termination dna sequencing, family, leber's amaurosis, mutation, mutation analysis, whole exome sequencing, genes
Invest. Ophthalmol. Vis. Sci.. 2013; 54(6):4351-4357. https://doi.org/10.1167/iovs.13-11606

Includes: Supplemental Content

Genetics September 2012

PAX6 Mutations Identified in 4 of 35 Families with Microcornea

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Panfeng Wang; Wenmin Sun; Shiqiang Li; Xueshan Xiao; Xiangming Guo; Qingjiong Zhang
TAGS: family, microcornea, mutation
Invest. Ophthalmol. Vis. Sci.. 2012; 53(10):6338-6342. https://doi.org/10.1167/iovs.12-10472

Genetics October 2011

Replication Study Supports CTNND2 as a Susceptibility Gene for High Myopia

PDF

Boyu Lu; Dan Jiang; Panfeng Wang; Yang Gao; Wenmin Sun; Xueshan Xiao; Shiqiang Li; Xiaoyun Jia; Xiangming Guo; Qingjiong Zhang
TAGS: disease susceptibility, genes, myopia
Invest. Ophthalmol. Vis. Sci.. 2011; 52(11):8258-8261. https://doi.org/10.1167/iovs.11-7914

ARVO Annual Meeting Abstract April 2011

Mutation Spectrum And Frequency Of 15 Causative Genes In 87 Unrelated Chinese Patients With Leber Congenital Amaurosis

LIN LI; Xueshan Xiao; Shiqiang Li; Xiaoyun Jia; Panfeng Wang; Xiangming Guo; Xiaodong Jiao; Qingjiong Zhang; J. Fielding Hejtmancik

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):3289.

ARVO Annual Meeting Abstract April 2011

Spectrum and Frequencies of mtDNA Primary Mutations in 1788 Chinese Families Suspected with Leber Hereditary Optic Neuropathy

Qingjiong Zhang; Xiaoyun Jia; Shiqiang Li; Xueshan Xiao; Xiangming Guo

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):4614.

ARVO Annual Meeting Abstract April 2011

Ocular Albinism in Chinese: Atypical Signs Are the Typical Phenotypes

Xiao-yun Jia; Xueshan Xiao; Shiqiang Li; Xiangming Guo; Qingjiong Zhang

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):2385.

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Mutation survey of candidate genes in 22 Chinese patients with Axenfeld-Rieger syndrome

Reinspection of FEVR based on exome sequencing: a common disease with extremely variable phenotypes

New locus for autosomal dominant aniridia in a Chinese family

Frequent mutations of genes involved in OXPHOS and optic neuropathy detected by whole exome sequencing of 257 Glaucoma Patients

Mutations in MT-ND4, MT-ND6 and MT-ND1 genes of 3013 Chinese patients suspected with Leber hereditary optic neuropathy: A 20-year retrospective

Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes

Unique Variants in OPN1LW Cause Both Syndromic and Nonsyndromic X-Linked High Myopia Mapped to MYP1

ALMS1 truncation mutations identified by exome sequencing in 11 Chinese families with early-onset severe retinal degeneration

Mutation analysis of genes associated with inherited retinal dystrophies in 257 patients with glaucoma

Confirmation of variants in OPN1LW as a common cause of MYP1 based on study of Chinese families with nonsyndromic high myopia

Evaluation of 12 Myopia-Associated Genes in Chinese Patients With High Myopia

Detection of Mutations in LRPAP1 , CTSH , LEPREL1 , ZNF644 , SLC39A5 , and SCO2 in 298 Families With Early-Onset High Myopia by Exome Sequencing

Mutation Analysis of Seven Known Glaucoma-Associated Genes in Chinese Patients With Glaucoma

Exome sequencing of 257 patients with POAG or PACG: mutations in seven known glaucoma-associated genes

Comprehensive Mutation Analysis by Whole-Exome Sequencing in 41 Chinese Families With Leber Congenital Amaurosis

PAX6 Mutations Identified in 4 of 35 Families with Microcornea

Replication Study Supports CTNND2 as a Susceptibility Gene for High Myopia

Mutation Spectrum And Frequency Of 15 Causative Genes In 87 Unrelated Chinese Patients With Leber Congenital Amaurosis

Spectrum and Frequencies of mtDNA Primary Mutations in 1788 Chinese Families Suspected with Leber Hereditary Optic Neuropathy

Ocular Albinism in Chinese: Atypical Signs Are the Typical Phenotypes

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